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Gene : POMK Homo sapiens

Name  ? protein O-mannose kinase Cytological Location  8p11.21
Brief Description  protein-O-mannose kinase
description  This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
  • synonyms:
  • FLJ23356,
  • MDDGC12,
  • HGNC:26267,
  • OTTHUMG00000164100,
  • SGK196,
  • MDDGA12,
  • SgK196,
  • NM_032237,
  • POMK
  • identifiers:
  • 84197,
  • ENSG00000185900,
  • POMK

Genome feature

Region: gene ? Length: 29675  
Location: 8:43093506-43123180 Cyto location: 8p11.21


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

19 SN Ps

5 Cross References

17 Data Sets

3 Homologues

0 Located Features

90 Rna Seq Results